orotic aciduria

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o·rot·ic ac·i·du·ri·a

(ōr-ot'ik as'i-dyu'rē-ă), [MIM*258900]
A rare disorder of pyrimidine metabolism characterized by hypochromic anemia with megaloblastic changes in bone marrow, leukopenia, retarded growth, and urinary excretion of orotic acid; autosomal recessive inheritance, caused by mutation in the uridine monophosphatate synthase gene (MMPS) on 3q13.
[orotic acid + G. ouron, urine]

orotic aciduria

a rare autosomal-recessive inherited disorder of pyrimidine metabolism. It includes signs and symptoms of macrocytic hypochromic anemia with megaloblastic changes in bone marrow, leukopenia, retarded growth, and urinary excretion of large amounts of orotic acid.

orotic aciduria

A rare autosomal recessive disorder (OMIM:258900) of pyrimidine metabolism characterised by megaloblastic anaemia and orotic acid crystalluria, often associated with physical and mental retardation and, in some cases, congenital malformations and immune defects. 

Lab
Hypochromic anaemia with megaloblastic changes in bone marrow, decreased WBCs, increased orotic acid in urine.
 
Molecular pathology
Caused by defects of UMPS, which encodes uridine monophosphate synthetase, a bifunctional enzyme that catalyses the last two steps of pyrimidine synthesis.

aciduria

the excretion of acid in the urine. See also specific forms, such as aminoaciduria, orotic aciduria.

orotic aciduria
appearance of orotic acid, an intermediate of pyrimidine synthesis, in the urine due to a lack of orotate phosphoribosyltransferase activity.
paradoxical aciduria
occurs when a metabolic alkalosis caused by severe vomiting or pooling of gastric secretions in the abomasum leads to renal bicarbonate reabsorption and sodium-hydrogen exchange with the inappropriate production of acid urine.